A recent case at the Children’s Hospital of Philadelphia (CHOP) has highlighted the capabilities of a new program called Baby Eagle, which offers rapid genomic testing for critically ill newborns. The initiative aims to provide free and swift diagnostics for genetic conditions in infants.
The program employs rapid targeted analysis of the genome (rTAG), developed by CHOP’s Division of Genomic Diagnostic. This test sequences an infant’s entire genome, focusing on around 3,000 genes relevant to newborn health. Surabhi Mulchandani, MS, AVP and Vice Chair of Administration in the Department of Pathology and Laboratory Medicine at CHOP, stated, “CHOP’s unique strength is to bring this technology to bedside safely and thoughtfully.”
Since its inception in July 2023, Baby Eagle has delivered rapid genomic sequencing (rGS) to over 500 infants. Before this program, only 1% of critically ill babies received such testing; now that number has increased nearly twentyfold.
The rTAG test has allowed many families to receive diagnoses that enable proactive treatments. In some cases where no treatment is possible, it provides valuable information for parents to pursue palliative care or make informed decisions about their child’s care.
K. Taylor Wild, MD, attending physician in the Divisions of Neonatology and Human Genetics at CHOP remarked, “Baby Eagle has revolutionized the care that we provide to critically ill newborns.” The Roberts Collaborative for Genetics and Individualized Medicine supports this initiative as part of its mission to enhance genetics care at CHOP.
Rapid testing significantly reduces wait times for results. Previously taking up to 90 days, Baby Eagle now delivers median results within nine days—most positive outcomes are communicated within six days and negative ones within four days.
Dr. Wild emphasized the importance of expanding access: “Expanding access is vitally important. Genetic testing is expensive and rarely reimbursed by insurance.” In 2025, efforts will focus on extending Baby Eagle’s reach beyond CHOP’s facilities.
For more information on supporting genomics at CHOP, contact Michael Byun at byunm@chop.edu.
